Hemochromatosis: Understanding Iron Overload and Phlebotomy Treatment

Hemochromatosis isn’t just high iron-it’s a silent, genetic thief that slowly poisons your liver, heart, and pancreas. Most people don’t know they have it until their organs are already damaged. By the time fatigue, joint pain, or darkened skin show up, years of iron buildup have already taken place. The good news? If caught early, this condition is one of the easiest serious diseases to treat. All it takes is a simple, low-cost procedure: removing blood.

What Exactly Is Hemochromatosis?

Hemochromatosis is a genetic disorder where your body absorbs way too much iron from food. Normally, your gut absorbs just enough iron to replace what you lose daily. But in hemochromatosis, that system breaks down. Your body keeps absorbing iron-even when it’s already full. Over time, that extra iron piles up in your liver, heart, pancreas, and joints.

This isn’t something you get from eating too much red meat. It’s inherited. About 90% of cases are caused by two copies of a mutated gene called HFE, specifically the C282Y mutation. If you’re of Northern European descent-Irish, Scottish, Welsh, or Scandinavian-you’re at higher risk. One in 200 people in the U.S. carries two copies of this gene. But not everyone with the gene gets sick. Men are five to ten times more likely to show symptoms than women, mostly because women lose iron through menstruation until menopause.

How Does Iron Overload Damage Your Body?

Iron isn’t the problem-it’s the excess. Your body doesn’t have a natural way to get rid of extra iron. So it stores it in your organs. The liver takes the first hit. Over time, iron builds up in liver cells, triggering inflammation. That leads to fibrosis, then cirrhosis. Once cirrhosis sets in, your risk of liver cancer jumps dramatically.

But it doesn’t stop there. Iron also damages the pancreas, leading to diabetes in about 25% of untreated cases. It messes with your heart rhythm and can cause heart failure. It lowers testosterone, causing loss of libido and erectile dysfunction in men. And it settles in your joints, especially the knuckles of your hands, causing pain that feels like arthritis.

Skin changes are another red flag. About 45% of patients develop a bronze or grayish tint to their skin-not from sun exposure, but from iron deposits in the skin itself. It’s one of the clearest visual signs, but it usually appears late.

How Is It Diagnosed?

Most doctors don’t think of hemochromatosis right away. Fatigue, joint pain, and low sex drive are common complaints. They’re often blamed on stress, aging, or depression. That’s why it takes an average of 5 to 7 years for people to get diagnosed.

The first step is blood tests. Two key numbers matter:

• Transferrin saturation-this tells you how much iron is floating in your blood. Above 45% is suspicious. Above 60% is a strong indicator.
• Serum ferritin-this measures stored iron. In men, over 300 ng/mL is high. In women, over 200 ng/mL. Levels above 1,000 ng/mL mean serious liver damage is likely already happening.

If those numbers are high, the next step is genetic testing for the HFE gene mutations. Finding two C282Y copies confirms the diagnosis in most cases. You don’t need a liver biopsy anymore. MRI scans can now measure liver iron accurately and safely.

Phlebotomy: The Simple Cure

Phlebotomy is the treatment. It’s the same as donating blood-but it’s medical, not voluntary. Every time you give 450-500 mL of blood, you remove about 200-250 mg of iron. That’s how you drain the excess.

The process has two phases:

1. Induction phase: You get a phlebotomy once a week until your ferritin drops to 50-100 ng/mL. For someone with ferritin over 2,000 ng/mL, this can take 12 to 18 months and 30 to 60 sessions.
2. Maintenance phase: Once your iron is under control, you switch to less frequent sessions-every 2 to 4 months-to keep ferritin in the safe range.

It’s cheap. Most insurance covers it. Many blood banks will do therapeutic phlebotomy for free or a small fee. It’s also safe. You don’t get weak from it. Most people feel better after a few sessions-more energy, less joint pain, better sleep.

What Happens If You Don’t Treat It?

Untreated hemochromatosis is deadly. If your ferritin stays above 1,000 ng/mL for years, you have a 50-75% chance of developing cirrhosis. Once cirrhosis is there, your 10-year survival rate drops to 60%. If you develop liver cancer on top of it, survival plummets further.

Diabetes from iron damage is permanent. Heart damage can lead to sudden arrhythmias. And once your liver is scarred, no amount of phlebotomy can reverse it. That’s why early diagnosis is everything. If you catch it before ferritin hits 1,000, you can prevent almost all long-term damage.

Why Do So Many People Go Undiagnosed?

Because the symptoms are vague. Doctors aren’t trained to think of hemochromatosis unless you’re already very sick. Primary care providers rarely order transferrin saturation tests-even though it’s the earliest and most reliable sign.

Patients report seeing three to five doctors before someone says, “Maybe it’s iron overload.” One Reddit user, after 8 years of pain, found his ferritin was 2,850 ng/mL. He needed 62 phlebotomies. That’s not unusual.

Another barrier? Maintenance. Once symptoms go away, people stop coming in. They think they’re cured. But iron keeps building up. Without regular blood removal, it creeps back. That’s why long-term adherence is critical.

Alternatives to Phlebotomy

Not everyone can tolerate regular blood draws. Older patients with poor veins, people with anemia, or those with heart failure can’t handle weekly phlebotomies.

For them, iron chelators like deferasirox or deferoxamine are options. These are oral or injected drugs that bind to iron and flush it out through urine or stool. But they’re expensive-$25,000 to $35,000 a year-and come with side effects like nausea, kidney stress, and liver toxicity. They’re also less effective than phlebotomy at removing iron from the liver.

There’s new hope on the horizon. A drug called PTG-300, a hepcidin mimetic, is in clinical trials. It tricks the body into thinking it has enough iron, so it stops absorbing more. Early results show a 53% drop in transferrin saturation in just 12 weeks. But it’s not approved yet. For now, phlebotomy is still the gold standard.

Family Screening Saves Lives

Hemochromatosis is inherited. If you’re diagnosed, your siblings, children, and parents should be tested. About 70% of cases are found through family screening after one person is diagnosed.

Genetic testing now costs $150-$300-down from over $1,000 in the early 2000s. It’s fast, simple, and covered by many insurance plans. Testing first-degree relatives is one of the most cost-effective public health moves in medicine. A single test can prevent decades of suffering and thousands of dollars in future medical bills.

What You Can Do Now

If you have unexplained fatigue, joint pain, or low libido-and you’re of Northern European descent-ask your doctor for two simple blood tests: transferrin saturation and serum ferritin. Don’t wait for symptoms to get worse.

If you’ve been diagnosed, stick with your phlebotomy schedule. Even if you feel fine. Iron doesn’t care how you feel. It’s still building up.

If you’ve had liver disease, diabetes, or heart problems with no clear cause, get tested. You might be one of the 85-90% of iron overload cases that are actually hemochromatosis.

This isn’t a rare disease. It’s one of the most common genetic disorders in the U.S. And it’s one of the easiest to fix-if you catch it early.